SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2526118615 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526121770 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526122417 LAMC2 Health Risk Pathogenic —
RS2526127239 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526127586 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526127700 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526133602 LAMC2 Health Risk Pathogenic —
RS2526134840 LAMC2 Health Risk Likely pathogenic —
RS2526140861 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2526141876 NOTCH2 Health Risk Pathogenic Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation
RS2526147354 LAMC2 Health Risk Pathogenic Epidermolysis bullosa, junctional 3A
RS2526147658 LAMC2 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 3B
RS2526149314 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2526152738 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526152872 SPTA1 Health Risk Likely pathogenic —
RS2526152917 SPTA1 Health Risk Likely pathogenic —
RS2526183021 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS2526183559 SPTA1 Health Risk Likely pathogenic —
RS2526190236 COL11A1 Health Risk Likely pathogenic Marshall syndrome, Marshall syndrome
RS2526191812 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526206561 NOTCH2 Health Risk Likely pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2526214510 TSHB Health Risk Pathogenic —
RS2526216886 TSHB Health Risk Pathogenic —
RS2526221510 SPTA1 Health Risk Likely pathogenic Pyropoikilocytosis, hereditary
RS2526224355 ASH1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 52
RS2526234131 SLC19A2 Health Risk Pathogenic —
RS2526234318 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2526235696 MPZ Health Risk Likely pathogenic Dejerine-Sottas disease, Dejerine-Sottas disease
RS2526235908 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2526236007 COL11A1 Health Risk Pathogenic —
RS2526236083 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2526236106 SLC19A2 Health Risk Pathogenic —
RS2526236168 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2526237995 MPZ Health Risk Likely pathogenic Roussy-Lévy syndrome, Roussy-Lévy syndrome
RS2526238022 MPZ Health Risk Conflicting classifications of pathogenicity —
RS2526238512 LMX1A Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7
RS2526238682 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2526238696 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 2J
RS2526238723 MPZ Health Risk Pathogenic Inborn genetic diseases, Charcot-Marie-Tooth disease
RS2526239029 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2526239717 SLC19A2 Health Risk Pathogenic —
RS2526240098 SLC19A2 Health Risk Pathogenic —
RS2526240104 SLC19A2 Health Risk Pathogenic —
RS2526240389 SLC19A2 Health Risk Likely pathogenic —
RS2526243073 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 1B
RS2526243453 MPZ Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2526244215 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease dominant intermediate D
RS2526247353 NPHS2 Health Risk Likely pathogenic —
RS2526256135 SLC19A2 Health Risk Pathogenic —
RS2526256716 FMO3 Health Risk Pathogenic —
RS2526256741 SLC19A2 Health Risk Pathogenic —
RS2526256749 FMO3 Health Risk Pathogenic —
RS2526256800 FMO3 Health Risk Pathogenic —
RS2526256922 SLC19A2 Health Risk Pathogenic —
RS2526257147 SLC19A2 Health Risk Likely pathogenic —
RS2526257236 FMO3 Health Risk Pathogenic —
RS2526257326 SLC19A2 Health Risk Pathogenic/Likely pathogenic Megaloblastic anemia, thiamine-responsive
RS2526263331 TARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
RS2526272114 NPHS2 Health Risk Pathogenic —
RS2526272763 NPHS2 Health Risk Pathogenic —
RS2526273002 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526273309 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526273372 NPHS2 Health Risk Pathogenic —
RS2526273422 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526273640 NPHS2 Health Risk Pathogenic —
RS2526274169 SLC19A2 Health Risk Pathogenic —
RS2526281838 SETSIP Health Risk Pathogenic Intellectual disability, autosomal dominant 58
RS2526286396 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2526288126 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526288141 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526288643 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526288830 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526289187 SPTA1 Health Risk Likely pathogenic Pyropoikilocytosis, hereditary
RS2526289582 SPTA1 Health Risk Likely pathogenic —
RS2526289681 CTRC Health Risk Likely pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS2526290117 CTRC Health Risk Pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS2526297384 CTRC Health Risk Likely pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS2526297442 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS2526297492 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526297786 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526300115 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS2526300230 NOTCH2 Health Risk Likely pathogenic Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation
RS2526310648 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2526312925 FMO3 Health Risk Pathogenic —
RS2526313561 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS2526313922 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2526314427 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS2526317363 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2526321732 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2526321787 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2526321843 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2526322096 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2526323385 COL6A1 Health Risk Likely pathogenic —
RS2526323439 COL6A1 Health Risk Likely pathogenic Proximal muscle weakness, Proximal muscle weakness
RS2526325667 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2526326141 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2526327036 PRG4 Health Risk Likely pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS2526327208 FMO3 Health Risk Pathogenic —
RS2526328903 COL6A1 Health Risk Likely pathogenic COL6A1-related disorder, COL6A1-related disorder
RS2526329601 FMO3 Health Risk Pathogenic —
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